Publications by authors named "U Geisthoff"
Background: Hereditary hemorrhagic telangiectasia (HHT, Rendu- Osler-Weber disease, or Osler's disease for short) is a systemic disease that can severely impair the quality of life and that requires interdisciplinary treatment. Among rare diseases, it is relatively common, with a prevalence of approximately 1/5000.
Methods: This review is based on publications retrieved by a selective literature search, including the two international guidelines on clinically relevant aspects of HHT.
Article Synopsis
- - Hereditary hemorrhagic telangiectasia (HHT) is a rare condition that leads to dilated blood vessels and has been linked to a higher prevalence of infections and allergies in affected individuals.
- - In a study, 430 patients with HHT completed a survey, revealing that they experienced significantly more allergies, particularly type I allergies, along with a higher incidence of infections like sinusitis and pulmonary infections, compared to their non-affected counterparts.
- - The findings highlight the need for increased awareness and recommendations for patients with pulmonary arteriovenous malformations (PAVMs) to take prophylactic antibiotics, as many do not do so despite their higher risk of complications.
Article Synopsis
- A postal survey was conducted among 161 German ENT departments to evaluate the diagnostic effectiveness and complication rates of fine-needle aspiration (FNA) and core needle biopsy (CNB) in the thyroid gland, salivary glands, and lymph nodes.
- The response rate was 45%, with many clinics not performing these procedures due to a lack of pathologist expertise.
- FNA was more commonly used than CNB, achieving 63% meaningful findings for FNA and 83% for CNB, with very few cases reporting potential tumor cell spread, indicating varying practices across Germany.
The transforming growth factor β (TGF-β)/ALK1/ENG signaling pathway maintains quiescent state of endothelial cells, but at the same time, it regulates neutrophil functions. Importantly, mutations of this pathway lead to a rare autosomal disorder called hereditary hemorrhagic telangiectasia (HHT), characterized with abnormal blood vessel formation (angiogenesis). As neutrophils are potent regulators of angiogenesis, we investigated how disturbed TGF-β/ALK1/ENG signaling influences angiogenic properties of these cells in HHT.
View Article and Find Full Text PDFHereditary hemorrhagic telangiectasia (HHT) type 2 is an autosomal dominant disease in which one allele of the gene is mutated. Patients exhibit disturbances in TGF-beta/BMP-dependent angiogenesis and, clinically, often present with severe nosebleeds as well as a reduced quality of life. The aim of our study was to use CRISPR/Cas9 to knockout in normal induced pluripotent stem cells (iPSCs) and evaluate the effects on TGF-beta- and BMP-related gene expression as well as angiogenesis.
View Article and Find Full Text PDF